Human Gene CAPNS1 (ENST00000246533.8_7) from GENCODE V47lift37
  Description: calpain small subunit 1, transcript variant 1 (from RefSeq NM_001749.4)
Gencode Transcript: ENST00000246533.8_7
Gencode Gene: ENSG00000126247.11_20
Transcript (Including UTRs)
   Position: hg19 chr19:36,630,968-36,641,255 Size: 10,288 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr19:36,631,914-36,640,741 Size: 8,828 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:36,630,968-36,641,255)mRNA (may differ from genome)Protein (268 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CPNS1_HUMAN
DESCRIPTION: RecName: Full=Calpain small subunit 1; Short=CSS1; AltName: Full=Calcium-activated neutral proteinase small subunit; Short=CANP small subunit; AltName: Full=Calcium-dependent protease small subunit; Short=CDPS; AltName: Full=Calcium-dependent protease small subunit 1; AltName: Full=Calpain regulatory subunit;
FUNCTION: Regulatory subunit of the calcium-regulated non- lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.
COFACTOR: Calcium (By similarity).
SUBUNIT: Homodimer or heterodimer of a large (catalytic) and a small (regulatory) subunit. In presence of calcium, the heterodimer dissociates (By similarity).
INTERACTION: P17655:CAPN2; NbExp=2; IntAct=EBI-711828, EBI-1028956;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cell membrane (By similarity). Note=Translocates to the plasma membrane upon calcium binding (By similarity).
DOMAIN: The contact of the 5th EF-hand domain from each monomer allows the formation of the homodimer and also appears to mediate the contact between the large catalytic subunit and small regulatory subunit for the formation of the heterodimer (By similarity).
DOMAIN: EF-hand domains are paired. EF-hand 1 is paired with EF- hand 2 and EF-hand 3 is paired with EF-hand 4. The fifth EF-hand domain, left unpaired, does not bind the calcium but is responsible of the dimerization by EF-embrace. The first four EF- hand domains bind calcium, however it is not sure if the binding of EF-hand 4 to calcium is physiologically relevant.
SIMILARITY: Contains 5 EF-hand domains.
WEB RESOURCE: Name=CaBP; Note=Calpain; URL="http://structbio.vanderbilt.edu/cabp_database/general/prot_pages/calpain.html";
WEB RESOURCE: Name=Calpains homepage; URL="http://ag.arizona.edu/calpains/";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/capns1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CAPNS1
Diseases sorted by gene-association score: chronic neutrophilic leukemia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 160.43 RPKM in Esophagus - Mucosa
Total median expression: 4638.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -49.50107-0.463 Picture PostScript Text
3' UTR -158.70514-0.309 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd

Pfam Domains:
PF13202 - EF hand
PF13833 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1KFU - X-ray MuPIT 1KFX - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P04632
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004175 endopeptidase activity
GO:0004198 calcium-dependent cysteine-type endopeptidase activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0006508 proteolysis
GO:0008284 positive regulation of cell proliferation
GO:0016241 regulation of macroautophagy
GO:0070268 cornification

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK289606 - Homo sapiens cDNA FLJ75451 complete cds, highly similar to Homo sapiens calpain, small subunit 1 (CAPNS1), mRNA.
X04106 - Human mRNA for calcium dependent protease (small subunit).
DI441761 - KR 1020140091683-A/5: METHODS AND COMPOSITIONS FOR NEUROPROTECTION.
HI635181 - Sequence 41028 from Patent EP2242854.
HI635182 - Sequence 41029 from Patent EP2242854.
HV708930 - JP 2012506450-A/28: Methods for treating eye disorders.
HV708931 - JP 2012506450-A/29: Methods for treating eye disorders.
HW061190 - JP 2012529430-A/65: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW061191 - JP 2012529430-A/66: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW819140 - JP 2015501634-A/5: METHODS AND COMPOSITIONS FOR NEUROPROTECTION.
JA394579 - Sequence 1 from Patent WO2011066475.
JA394580 - Sequence 2 from Patent WO2011066475.
JA482169 - Sequence 152 from Patent WO2011072091.
JA482170 - Sequence 153 from Patent WO2011072091.
JB251998 - Sequence 65 from Patent EP2440214.
JB251999 - Sequence 66 from Patent EP2440214.
JB747464 - Sequence 5 from Patent WO2013067076.
JE980461 - Sequence 152 from Patent EP2862929.
JE980462 - Sequence 153 from Patent EP2862929.
LF384242 - JP 2014500723-A/191745: Polycomb-Associated Non-Coding RNAs.
LP764897 - Sequence 65 from Patent EP3276004.
LP764898 - Sequence 66 from Patent EP3276004.
BC018931 - Homo sapiens calpain, small subunit 1, mRNA (cDNA clone MGC:14442 IMAGE:4303926), complete cds.
JB747465 - Sequence 6 from Patent WO2013067076.
JD127202 - Sequence 108226 from Patent EP1572962.
JD140460 - Sequence 121484 from Patent EP1572962.
BC007779 - Homo sapiens calpain, small subunit 1, mRNA (cDNA clone MGC:12745 IMAGE:4301394), complete cds.
BC011903 - Homo sapiens calpain, small subunit 1, mRNA (cDNA clone MGC:20290 IMAGE:4120579), complete cds.
GQ901017 - Homo sapiens clone HEL-T-129 epididymis secretory sperm binding protein mRNA, complete cds.
BC000592 - Homo sapiens calpain, small subunit 1, mRNA (cDNA clone MGC:1790 IMAGE:3347146), complete cds.
JD306600 - Sequence 287624 from Patent EP1572962.
BC064998 - Homo sapiens calpain, small subunit 1, mRNA (cDNA clone MGC:75186 IMAGE:5785274), complete cds.
BC017308 - Homo sapiens calpain, small subunit 1, mRNA (cDNA clone MGC:29672 IMAGE:5089022), complete cds.
BC023643 - Homo sapiens calpain, small subunit 1, mRNA (cDNA clone MGC:29704 IMAGE:5017512), complete cds.
AY007141 - Homo sapiens clone CDABP0068 mRNA sequence.
BC021933 - Homo sapiens calpain, small subunit 1, mRNA (cDNA clone MGC:32094 IMAGE:4872635), complete cds.
JD325080 - Sequence 306104 from Patent EP1572962.
CU680106 - Synthetic construct Homo sapiens gateway clone IMAGE:100018913 5' read CAPNS1 mRNA.
KJ905160 - Synthetic construct Homo sapiens clone ccsbBroadEn_14567 CAPNS1 gene, encodes complete protein.
KJ905704 - Synthetic construct Homo sapiens clone ccsbBroadEn_15374 CAPNS1 gene, encodes complete protein.
KJ905705 - Synthetic construct Homo sapiens clone ccsbBroadEn_15375 CAPNS1 gene, encodes complete protein.
BT009775 - Homo sapiens calpain, small subunit 1 mRNA, complete cds.
LF367312 - JP 2014500723-A/174815: Polycomb-Associated Non-Coding RNAs.
JC506666 - Sequence 34 from Patent EP2733220.
JC737778 - Sequence 34 from Patent WO2014075939.
JC506674 - Sequence 42 from Patent EP2733220.
JC737786 - Sequence 42 from Patent WO2014075939.
JC506661 - Sequence 29 from Patent EP2733220.
JC737773 - Sequence 29 from Patent WO2014075939.
JC506688 - Sequence 56 from Patent EP2733220.
JC737800 - Sequence 56 from Patent WO2014075939.
JD020880 - Sequence 1904 from Patent EP1572962.
JD030726 - Sequence 11750 from Patent EP1572962.
DQ590872 - Homo sapiens piRNA piR-57984, complete sequence.
JD264288 - Sequence 245312 from Patent EP1572962.
JD320639 - Sequence 301663 from Patent EP1572962.
JD096929 - Sequence 77953 from Patent EP1572962.
JD239719 - Sequence 220743 from Patent EP1572962.
JD503709 - Sequence 484733 from Patent EP1572962.
JD185830 - Sequence 166854 from Patent EP1572962.
JD251599 - Sequence 232623 from Patent EP1572962.
JD178717 - Sequence 159741 from Patent EP1572962.
JD400781 - Sequence 381805 from Patent EP1572962.
JD321216 - Sequence 302240 from Patent EP1572962.
JD382257 - Sequence 363281 from Patent EP1572962.
JD190022 - Sequence 171046 from Patent EP1572962.
MA619819 - JP 2018138019-A/191745: Polycomb-Associated Non-Coding RNAs.
MA602889 - JP 2018138019-A/174815: Polycomb-Associated Non-Coding RNAs.
MP015103 - Sequence 306 from Patent WO2019016252.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ucalpainPathway - uCalpain and friends in Cell spread
h_integrinPathway - Integrin Signaling Pathway
h_mCalpainPathway - mCalpain and friends in Cell motility
h_p35alzheimersPathway - Deregulation of CDK5 in Alzheimers Disease
h_mef2dPathway - Role of MEF2D in T-cell Apoptosis

Reactome (by CSHL, EBI, and GO)

Protein P04632 (Reactome details) participates in the following event(s):

R-HSA-2534260 E-cadherin degradation by caspase-3 and calpain-1
R-HSA-8934819 Cytoplasmic proteases cleave Profilaggrin producing Filaggrin
R-HSA-8848658 CAPN:4xCa2+:CAPNS cleave cytoskeletal proteins
R-HSA-8863008 Calpain activation
R-HSA-8868134 CAST binds Ca2+ bound calpain
R-HSA-8863012 Calpain cleaves p35 to p25
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-6809371 Formation of the cornified envelope
R-HSA-8862803 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
R-HSA-1474244 Extracellular matrix organization
R-HSA-6805567 Keratinization
R-HSA-8863678 Neurodegenerative Diseases
R-HSA-1266738 Developmental Biology
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: A8K0P1, CAPN4, CAPNS, CPNS1_HUMAN, ENST00000246533.1, ENST00000246533.2, ENST00000246533.3, ENST00000246533.4, ENST00000246533.5, ENST00000246533.6, ENST00000246533.7, NM_001749, P04632, Q8WTX3, Q96EW0, uc317etq.1, uc317etq.2
UCSC ID: ENST00000246533.8_7
RefSeq Accession: NM_001749.4
Protein: P04632 (aka CPNS1_HUMAN or CSS1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.